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AGGTGGCACCGTGGTTGCGGGAGCC[A/G]TGGCGGGGGCACTGGGAGCCTTCGT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
14 submissions
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Phenotype: |
MIM: 609613 MIM: 610817 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
PLEKHM2 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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PLEKHM2 - pleckstrin homology and RUN domain containing M2 | ||||||
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There are no transcripts associated with this gene. |
SLC25A34 - solute carrier family 25 member 34 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_207348.2 | 1732 | Missense Mutation | ATG,GTG | M,V 112 | NP_997231.1 | |
XM_011541292.2 | 1732 | Missense Mutation | ATG,GTG | M,V 112 | XP_011539594.1 | |
XM_011541293.1 | 1732 | Missense Mutation | ATG,GTG | M,V 112 | XP_011539595.1 | |
XM_017001083.1 | 1732 | Missense Mutation | ATG,GTG | M,V 112 | XP_016856572.1 |
TMEM82 - transmembrane protein 82 | ||||||
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There are no transcripts associated with this gene. |